t(3;14)(q27;q32) IGH/BCL6
t(2;3)(p12;q27) IGK/BCL6
t(3;22)(q27;q11) IGL/BCL6
1998-04-01 Christian Bastard
Affiliation
1.Department of Hematology, Centre Henri Becquerel, Rouen, France
Clinics and Pathology
Disease
NHL; mainly diffuse large cell lymphoma (DLCL); high gradelymphoma; rare cases with low grade/follicular lymphoma; in those cases, 3qrearrangements can be isolated or associated with a t(14;18) translocation
Phenotype stem cell origin
B-cell
Epidemiology
3q27 rearrangements present in 25 to 30 % of DLCL; about 10 %of follicular lymphoma
Clinics
mainly adult aggressive lymphoma
Treatment
intensive chemotherapy
Prognosis
controversial
Cytogenetics
Cytogenetics morphological
t(2;3) and t(3;22) are easily identified; t(3 ;14) istelomeric and difficult to see, especially when using G banding
Cytogenetics molecular
some cosmid and YAC probes have been developed
Additional anomalies
very frequent, as usual in NHL, involving chromosome1, del(6q), 10q, 11q, 12q, 13q, 17p arms
Variants
large number of recurring defects involving the 3q27 region:t(3;4)(q27;p13), t(3;6)(q27;p22), t(3;7)(q27;p13),t(3;8)(q27;q24), t(3;11)(q27;q23),t(3;13)(q27;q14), t(3;15)(q27;q22), t(3;17)(q27;q11).
Genes Involved and Proteins
Note
BCL 6 (see below) with various partners: immunoglobulin genes IgH(mainly Sμ region) in 14q32, IgK in 2p12, and IgL in22q11; (for variant translocations, partners are: RHOH in thet(3;4), histone H1F1 in the t(3;6), OBF1 in the t(3;11),LCP1 in the t(3;13); in these cases, the first non-coding exon ofthe partner gene fuses with the second exon of BCL6, resulting in thederegulated expression of a chimerical transcript and the production of anormal BCL6 protein)
Gene name
BCL6 (B-Cell Lymphoma 6)
Location
3q27.3
Dna rna description
10 exons; alternative splicing of exons 1 (1a and 1b),without modification of the open reading frame
Protein description
transcription factor; belongs to the Krüppel family,with a N-term BTB/POZ domain and 6 zinc fingers; transcription repressor.
Result of the Chromosomal Anomaly
Description
no fusion protein, but promoter exchange; the immunoglobulingene promoter controls the expression of the BCL6 gene.
Oncogenesis
deregulated protein expression; alternative deregulationmechanisms: deletion of regulating sequences, mutations.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25991819 | 2015 | Genome-Wide Analysis Uncovers Novel Recurrent Alterations in Primary Central Nervous System Lymphomas. | 49 |
| 37884941 | 2023 | Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient: case report and literature review. | 45 |
| 18645192 | 2008 | Del(6)(q22) and BCL6 rearrangements in primary CNS lymphoma are indicators of an aggressive clinical course. | 44 |
| 8557040 | 1995 | Chromosomal translocations cause deregulated BCL6 expression by promoter substitution in B cell lymphoma. | 41 |
| 23775715 | 2013 | A capture-sequencing strategy identifies IRF8, EBF1, and APRIL as novel IGH fusion partners in B-cell lymphoma. | 37 |
| 16049307 | 2005 | Molecular cytogenetic analyses of immunoglobulin loci in nodular lymphocyte predominant Hodgkin's lymphoma reveal a recurrent IGH-BCL6 juxtaposition. | 28 |
| 33082762 | 2020 | Other Iatrogenic Immunodeficiency-Associated Lymphoproliferative Disorders, Diffuse Large B-Cell Lymphoma Type, in a Patient with Behçet's Disease Treated with Cyclosporine A. | 19 |
| 22867898 | 2012 | IGH@/BCL6 rearrangement on the der(3)t(3;14)(q27;q32) in primary mediastinal large B-cell lymphoma. | 0 |
| 36917896 | 2023 | High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy. | 0 |
| 25596256 | 2015 | Cyclin D1-positive diffuse large B-cell lymphoma with IGH-CCND1 translocation and BCL6 rearrangement: a report of two cases. | 0 |
| 30171453 | 2018 | Characterization of genomic alterations in primary central nervous system lymphomas. | 0 |
| 20830719 | 2011 | BCL6 gene rearrangement and protein expression are associated with large cell presentation of extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue. | 0 |
| 23135954 | 2013 | Chromosome abnormalities in diffuse large B-cell lymphomas: analysis of 231 Chinese patients. | 0 |
| 20854073 | 2010 | Primary central nervous system lymphoma: a clinicopathological study of 75 cases. | 0 |
| 18983608 | 2008 | Perforation predicts poor prognosis in patients with primary intestinal diffuse large B-cell lymphoma. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8506375 | 1993 | Identification of the gene associated with the recurring chromosomal translocations t(3;14)(q27;q32) and t(3;22)(q27;q11) in B-cell lymphomas. | Baron BW et al |
| 8167331 | 1994 | LAZ3 rearrangements in non-Hodgkin's lymphoma: correlation with histology, immunophenotype, karyotype, and clinical outcome in 217 patients. | Bastard C et al |
| 1586704 | 1992 | Translocations involving band 3q27 and Ig gene regions in non-Hodgkin's lymphoma. | Bastard C et al |
| 7509622 | 1993 | Cloning of a breakpoint cluster region at band 3q27 involved in human non-Hodgkin's lymphoma. | Deweindt C et al |
| 8220427 | 1993 | LAZ3, a novel zinc-finger encoding gene, is disrupted by recurring chromosome 3q27 translocations in human lymphomas. | Kerckaert JP et al |
| 8274740 | 1994 | Gene involved in the 3q27 translocation associated with B-cell lymphoma, BCL5, encodes a Krüppel-like zinc-finger protein. | Miki T et al |
| 8208268 | 1994 | Rearrangement of the bcl-6 gene as a prognostic marker in diffuse large-cell lymphoma. | Offit K et al |
| 8235596 | 1993 | Alterations of a zinc finger-encoding gene, BCL-6, in diffuse large-cell lymphoma. | Ye BH et al |
| 8504412 | 1993 | Cloning of bcl-6, the locus involved in chromosome translocations affecting band 3q27 in B-cell lymphoma. | Ye BH et al |
Summary
Fusion gene
IGL/BCL6 IGL (22q11.22) BCL6 (3q27.3) M t(3;22)(q27;q11)
Note
the three translocations are variant of each other, share identicalfeatures, and represent translocations of the same proto-oncogene intovarious immunoglobulin loci.
t(2;3)(p12;q27) G- banding (above) - Courtesy Jean-Luc Lai and Alain Vanderhaegen; t(3;14)(q27;q32) G-banding (middle) and t(3;22)(q27;q11) G-banding (below) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services
Citation
Christian Bastard
t(3;14)(q27;q32) IGH/BCL6
t(2;3)(p12;q27) IGK/BCL6
t(3;22)(q27;q11) IGL/BCL6
Atlas Genet Cytogenet Oncol Haematol. 1998-04-01
Online version: http://atlasgeneticsoncology.org/haematological/2004/cancer-prone-explorer/new-content/gene-explorer/
